Incidental Mutation 'IGL00331:Tmem63a'
| ID |
7312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem63a
|
| Ensembl Gene |
ENSMUSG00000026519 |
| Gene Name |
transmembrane protein 63a |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL00331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180794062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 533
(D533G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000161523]
|
| AlphaFold |
Q91YT8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027800
AA Change: D533G
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: D533G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
50 |
213 |
3.3e-24 |
PFAM |
|
Pfam:PHM7_cyt
|
261 |
327 |
8.2e-12 |
PFAM |
|
Pfam:RSN1_7TM
|
349 |
692 |
1.5e-87 |
PFAM |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161523
AA Change: D533G
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: D533G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
50 |
213 |
3.6e-25 |
PFAM |
|
Pfam:DUF4463
|
261 |
326 |
9.4e-15 |
PFAM |
|
Pfam:DUF221
|
349 |
692 |
1.4e-87 |
PFAM |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
| Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
| Atp6v1b2 |
T |
C |
8: 69,541,586 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,076,462 (GRCm39) |
I416M |
possibly damaging |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
| Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,659 (GRCm39) |
I1061T |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,144 (GRCm39) |
L263P |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
| Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
| Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
| Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
| Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,572,511 (GRCm39) |
D948G |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
| Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
| Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
| Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
probably benign |
Het |
|
| Other mutations in Tmem63a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Tmem63a
|
APN |
1 |
180,790,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01116:Tmem63a
|
APN |
1 |
180,799,654 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01368:Tmem63a
|
APN |
1 |
180,797,797 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01445:Tmem63a
|
APN |
1 |
180,774,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01867:Tmem63a
|
APN |
1 |
180,783,570 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02043:Tmem63a
|
APN |
1 |
180,800,353 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02453:Tmem63a
|
APN |
1 |
180,790,634 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02527:Tmem63a
|
APN |
1 |
180,780,539 (GRCm39) |
splice site |
probably null |
|
|
IGL02811:Tmem63a
|
APN |
1 |
180,793,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02975:Tmem63a
|
APN |
1 |
180,788,640 (GRCm39) |
missense |
probably benign |
|
|
IGL03304:Tmem63a
|
APN |
1 |
180,796,418 (GRCm39) |
nonsense |
probably null |
|
|
R0029:Tmem63a
|
UTSW |
1 |
180,790,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0029:Tmem63a
|
UTSW |
1 |
180,790,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0173:Tmem63a
|
UTSW |
1 |
180,782,363 (GRCm39) |
splice site |
probably benign |
|
|
R0358:Tmem63a
|
UTSW |
1 |
180,783,988 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0436:Tmem63a
|
UTSW |
1 |
180,800,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0506:Tmem63a
|
UTSW |
1 |
180,785,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0513:Tmem63a
|
UTSW |
1 |
180,788,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0529:Tmem63a
|
UTSW |
1 |
180,788,659 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0855:Tmem63a
|
UTSW |
1 |
180,788,625 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1633:Tmem63a
|
UTSW |
1 |
180,776,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2129:Tmem63a
|
UTSW |
1 |
180,793,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2212:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2214:Tmem63a
|
UTSW |
1 |
180,788,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2413:Tmem63a
|
UTSW |
1 |
180,788,640 (GRCm39) |
missense |
probably benign |
|
|
R2437:Tmem63a
|
UTSW |
1 |
180,790,054 (GRCm39) |
splice site |
probably null |
|
|
R3703:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3704:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3705:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3714:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3746:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3747:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3961:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3963:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4675:Tmem63a
|
UTSW |
1 |
180,784,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4795:Tmem63a
|
UTSW |
1 |
180,782,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Tmem63a
|
UTSW |
1 |
180,800,751 (GRCm39) |
missense |
probably benign |
|
|
R4916:Tmem63a
|
UTSW |
1 |
180,794,086 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4917:Tmem63a
|
UTSW |
1 |
180,794,086 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4918:Tmem63a
|
UTSW |
1 |
180,794,086 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5620:Tmem63a
|
UTSW |
1 |
180,797,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5843:Tmem63a
|
UTSW |
1 |
180,800,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5937:Tmem63a
|
UTSW |
1 |
180,788,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Tmem63a
|
UTSW |
1 |
180,788,035 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6990:Tmem63a
|
UTSW |
1 |
180,788,686 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7075:Tmem63a
|
UTSW |
1 |
180,788,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Tmem63a
|
UTSW |
1 |
180,782,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7447:Tmem63a
|
UTSW |
1 |
180,785,588 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7609:Tmem63a
|
UTSW |
1 |
180,780,539 (GRCm39) |
splice site |
probably null |
|
|
R8116:Tmem63a
|
UTSW |
1 |
180,788,048 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8141:Tmem63a
|
UTSW |
1 |
180,801,776 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8296:Tmem63a
|
UTSW |
1 |
180,788,685 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8770:Tmem63a
|
UTSW |
1 |
180,789,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9642:Tmem63a
|
UTSW |
1 |
180,776,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation